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Figure 1 | BMC Genetics

Figure 1

From: PAX6 mutations: genotype-phenotype correlations

Figure 1

The PAX6 cDNA and protein. Top: the PAX6 cDNA is represented as a horizontal rectangle with the different coding regions indicated: PB, paired box, LNK, linker region, HB, homeobox, PST, proline/serine/threonine-rich region. Exon boundaries are indicated by vertical black lines. 5a is alternatively spliced exon in the paired box. Thick horizontal lines indicate untranslated regions (not to scale). Bottom: cartoon of the PAX6 protein showing the different functional domains. N, N-terminus of protein; C, C-terminus; PB(N), N-terminal subdomain of paired domain; PB(C), C-terminal subdomain of paired domain; HD, homeodomain; PST, PSTdomain.

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